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Re: Dopa-responsive Dystonia

Posted by pixel8mbb on July 25, 2020, at 14:50:44

In reply to Re: Dopa-responsive Dystonia pixel8mbb, posted by linkadge on July 24, 2020, at 19:44:37

Thanks for your replies, Linkadge. I noticed several interesting posts of yours here, and sympathize with/can relate to much of what you've written.

I was excited after putting my 23andMe raw data through Promethease to find I have quite a few genes affecting neurotransmitters, but realized very soon how complex they all are. One example, I have a version of the COMT gene which implies I have a somewhat high level of dopamine, one would think it helps to have that COMT version to counteract the DRD gene, and maybe that sort of thing explains the varying degress of expression of the DRD gene. But since dopamine is controlled in different parts of the brain by different genes, I don't pretend to make sense of much.

The DRD mutation I have is in the GCH1 gene, the SNP rs41298442. My 23andMe raw data shows it as (G;G), and the common version is (A;A). If you have only one G allele you can have DRD (i.e. it's autosomal dominant). I had that gene checked by a geneticist who used Invitae, a company which is cheap ($250), compared to another company I found, Prevention Genetics, which charges $640 for a more comprehensive test of that gene. My Invitae results came back as (A;G) instead of (G;G), but they might not test for both alleles since the test is for the DRD condition, requiring only one G. Or, 23andMe may be inaccurate on my second G. Im having my brother send in a 23andMe saliva test, because it might be quite a phenomenon if my whole family is G;G, since it's such a rare condition.

One of the psychiatric conditions associated with DRD is OCD, which I have. My mother once told me it began at age 5, and turns out I have several genes associated with early onset OCD. So those genes might contribute to it, as well as the DRD gene. At the moment, I'm getting deep TMS with the H-7 coil for OCD. I was lucky to find a skilled psychiatrist who administers it correctly, presenting me with psychological provocations tailored to my OCD triggers beforehand. He first used the H-1 coil for my depression, but switched to the H-7 coil, which Brainsway recommends for both depression and OCD. Im about halfway through the series, and feel very encouraged.

In answer to another question from you on this thread, in addition to depression, anxiety, OCD, and trouble sleeping, I believe I've experienced some level of anhedonia, maybe a lessened enjoyment rather than none, my whole life. My head trip sometimes makes me want to theorize that OCD might be related to less enjoyment in a weird way, the brain trying hard to figure out how to be more human, not finding out so it keeps on looping forever. Sorry didn't mean to get on the couch here.

I also have ADD, not recognized in my youth because it just wasn't back then, and not recognized later by a psychiatrist I saw for years who just didn't listen well. It seems ADD must be separate from DRD, and its also implied by genes I have, like the one scientists call novelty seeking. I think that sounds better than easily bored.

For many years I worked with a meds doctor who prescribed almost any med I suggested, without anything helping much, and I've decided not to try anything now without talking to a neurologist. Levodopa with carbodopa are the default treatment for DRD, and levodopa is available in supplements but I don't want to try it without carbodopa, which must be prescribed. I had some very good serotinergic effects from 5-HTP in the past, also good effects from stimulants, taken at separate times, and wonder if a balance of the right two things might work for me. I take a little melotonin now, which helps my sleep a bit.

Tried to keep this brief but there's a lot to it. Googling can come up with a lot of interesting studies.


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poster:pixel8mbb thread:1111348
URL: http://www.dr-bob.org/babble/20200711/msgs/1111385.html